Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.S95A

SREBF1

327 papers

RefSeq Summary

This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the lo...

Pfam Domains

HLHaa 324–374UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

sterol regulatory element binding transcription factor 1

HGNC Alias Symbols

SREBP1; bHLHd1; SREBP-1c; SREBP1a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004176.5
p.S95A
c.283T>G
Surrounding Variants
1 paper
NM_004176.5
p.S95S
c.285A>T
1 paper
NM_004176.5
p.A93P
c.277G>C
1 paper
NM_004176.5
p.L97R
c.290T>G
1 paper
NM_004176.5
p.A92V
c.275C>T
1 paper
NM_004176.5
p.A92T
c.274G>A
2 papers
NM_004176.5
p.S98C
c.293C>G
1 paper
NM_004176.5
p.Q91*
c.271C>T
1 paper
NM_004176.5
p.P99P
c.297T>C
1 paper
NM_004176.5
p.P90S
c.268C>T
1 paper
NM_004176.5
p.P100T
c.298C>A
1 paper
NM_004176.5
p.P102P
c.306T>C
1 paper
NM_004176.5
p.P104L
c.311C>T
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